Canonical Allele Identifier: CA91796451

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1439835
• ClinVar RCV Id: RCV001950262
• dbSNP Id: rs55814513
• gnomAD v2: 4-6303197-G-T
• gnomAD v3: 4-6301470-G-T
• gnomAD v4: 4-6301470-G-T
• MyVariant Identifiers: chr4:g.6303197G>T (hg19) ; chr4:g.6301470G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301470G>T , CM000666.2:g.6301470G>T	GRCh38
NC_000004.11:g.6303197G>T , CM000666.1:g.6303197G>T	GRCh37
NC_000004.10:g.6354098G>T	NCBI36
NG_011700.1:g.36621G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1711G>T	ENSP00000507852.1:p.Ala571Ser
ENST00000683395.1:c.1652G>T
ENST00000684087.1:c.1675G>T	ENSP00000506978.1:p.Ala559Ser
ENST00000506362.2:c.1426G>T	ENSP00000424103.2:p.Ala476Ser
ENST00000673642.1:c.1334G>T	ENSP00000501242.1:n.1334G>T
ENST00000673991.1:c.1711G>T	ENSP00000501033.1:p.Ala571Ser
ENST00000226760.5:c.1675G>T MANE Select	ENSP00000226760.1:p.Ala559Ser
ENST00000503569.5:c.1675G>T	ENSP00000423337.1:p.Ala559Ser
ENST00000507765.1:n.1860G>T
NM_001145853.1:c.1675G>T	NP_001139325.1:p.Ala559Ser
NM_006005.3:c.1675G>T MANE Select	NP_005996.2:p.Ala559Ser
XM_017008586.1:c.1684G>T	XP_016864075.1:p.Ala562Ser